Canonical Allele Identifier: CA396578336

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515343G>T (hg19) ; chr16:g.70481440G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481440G>T , CM000678.2:g.70481440G>T	GRCh38
NC_000016.9:g.70515343G>T , CM000678.1:g.70515343G>T	GRCh37
NC_000016.8:g.69072844G>T	NCBI36
NG_027529.1:g.47115C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2230C>A	ENSP00000461912.2:n.*2230C>A
ENST00000703106.1:c.2199C>A	ENSP00000515173.1:n.2199C>A
ENST00000703107.1:c.*2083C>A	ENSP00000515174.1:n.*2083C>A
ENST00000703108.1:c.*602C>A	ENSP00000515175.1:n.*602C>A
ENST00000703109.1:c.2187C>A	ENSP00000515176.1:p.Tyr729Ter
ENST00000703110.1:c.*1656C>A	ENSP00000515177.1:n.*1656C>A
ENST00000703111.1:n.2437C>A
ENST00000703112.1:n.3098C>A
ENST00000703113.1:c.*1567C>A	ENSP00000515178.1:n.*1567C>A
ENST00000703114.1:c.*803C>A	ENSP00000515179.1:n.*803C>A
ENST00000703115.1:c.1267C>A	ENSP00000515180.1:n.1267C>A
ENST00000323786.10:c.2154C>A MANE Select	ENSP00000315775.5:p.Tyr718Ter
ENST00000564415.6:c.*1934C>A	ENSP00000456653.2:n.*1934C>A
ENST00000674443.1:c.2079C>A	ENSP00000501405.1:p.Tyr693Ter
ENST00000323786.9:c.2154C>A	ENSP00000315775.5:p.Tyr718Ter
ENST00000393612.8:c.2091C>A	ENSP00000377236.5:p.Tyr697Ter
ENST00000482252.5:c.2301C>A	ENSP00000432802.1:n.2301C>A
ENST00000526700.5:n.1330C>A
ENST00000530314.5:n.2833C>A
ENST00000564415.5:c.*1934C>A	ENSP00000456653.1:n.*1934C>A
ENST00000565715.1:c.216C>A	ENSP00000455693.1:p.Tyr72Ter
NM_001195139.1:c.2091C>A	NP_001182068.1:p.Tyr697Ter
NM_015386.2:c.2154C>A	NP_056201.2:p.Tyr718Ter
XM_011522981.1:c.1728C>A	XP_011521283.1:p.Tyr576Ter
XM_011522981.3:c.1728C>A	XP_011521283.1:p.Tyr576Ter
XM_024450224.1:c.1173C>A	XP_024305992.1:p.Tyr391Ter
XR_933266.2:n.2100C>A
NM_015386.3:c.2154C>A MANE Select	NP_056201.2:p.Tyr718Ter
NM_001195139.2:c.2079C>A	NP_001182068.2:p.Tyr693Ter
NM_001365426.1:c.1728C>A	NP_001352355.1:p.Tyr576Ter
NR_158212.1:n.2113C>A